Canonical Allele Identifier: CA771918305

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1193859102
• MyVariant Identifiers: chr17:g.38082827_38082828del (hg19) ; chr17:g.39926574_39926575del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926574_39926575del , CM000679.2:g.39926574_39926575del	GRCh38
NC_000017.10:g.38082827_38082828del , CM000679.1:g.38082827_38082828del	GRCh37
NC_000017.9:g.35336353_35336354del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+909_-23+910del MANE Select	ENSP00000304858.2:n.-23+909_-23+910del
ENST00000304046.6:c.-23+909_-23+910del	ENSP00000304858.2:n.-23+909_-23+910del
ENST00000394169.5:c.-1229_-1228del	ENSP00000377724.1:n.-1229_-1228del
ENST00000579695.5:c.-18+909_-18+910del	ENSP00000464693.1:n.-18+909_-18+910del
ENST00000582052.1:n.31-236_31-235del
ENST00000584000.1:c.-23+492_-23+493del	ENSP00000464298.1:n.-23+492_-23+493del
NM_139280.2:c.-23+909_-23+910del	NP_644809.1:n.-23+909_-23+910del
XM_005257825.3:c.-23+242_-23+243del	XP_005257882.2:n.-23+242_-23+243del
XM_005257827.2:c.-18+909_-18+910del	XP_005257884.1:n.-18+909_-18+910del
NM_001320801.1:c.-1229_-1228del	NP_001307730.1:n.-1229_-1228del
NM_001320802.1:c.-18+909_-18+910del	NP_001307731.1:n.-18+909_-18+910del
NM_001320803.1:c.-23+242_-23+243del	NP_001307732.1:n.-23+242_-23+243del
NM_139280.3:c.-23+909_-23+910del	NP_644809.1:n.-23+909_-23+910del
NM_139280.4:c.-23+909_-23+910del MANE Select	NP_644809.1:n.-23+909_-23+910del
NM_001320802.2:c.-18+909_-18+910del	NP_001307731.1:n.-18+909_-18+910del
NM_001320801.2:c.-1229_-1228del	NP_001307730.1:n.-1229_-1228del